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Open Access Highly Accessed Research article

Mitochondrial and Y-chromosome diversity of the Tharus (Nepal): a reservoir of genetic variation

Simona Fornarino14, Maria Pala1, Vincenza Battaglia1, Ramona Maranta1, Alessandro Achilli12, Guido Modiano3, Antonio Torroni1, Ornella Semino1* and Silvana A Santachiara-Benerecetti1*

Author Affiliations

1 Dipartimento di Genetica e Microbiologia, Università di Pavia, 27100 Pavia, Italy

2 Dipartimento di Biologia Cellulare e Ambientale, Università di Perugia, 06123 Perugia, Italy

3 Dipartimento di Biologia, Università di Roma 'Tor Vergata', 00173 Roma, Italy

4 Current address: Human Evolutionary Genetics, CNRS URA 3012, Institut Pasteur, Paris, France

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BMC Evolutionary Biology 2009, 9:154  doi:10.1186/1471-2148-9-154

Published: 2 July 2009

Abstract

Background

Central Asia and the Indian subcontinent represent an area considered as a source and a reservoir for human genetic diversity, with many markers taking root here, most of which are the ancestral state of eastern and western haplogroups, while others are local. Between these two regions, Terai (Nepal) is a pivotal passageway allowing, in different times, multiple population interactions, although because of its highly malarial environment, it was scarcely inhabited until a few decades ago, when malaria was eradicated. One of the oldest and the largest indigenous people of Terai is represented by the malaria resistant Tharus, whose gene pool could still retain traces of ancient complex interactions. Until now, however, investigations on their genetic structure have been scarce mainly identifying East Asian signatures.

Results

High-resolution analyses of mitochondrial-DNA (including 34 complete sequences) and Y-chromosome (67 SNPs and 12 STRs) variations carried out in 173 Tharus (two groups from Central and one from Eastern Terai), and 104 Indians (Hindus from Terai and New Delhi and tribals from Andhra Pradesh) allowed the identification of three principal components: East Asian, West Eurasian and Indian, the last including both local and inter-regional sub-components, at least for the Y chromosome.

Conclusion

Although remarkable quantitative and qualitative differences appear among the various population groups and also between sexes within the same group, many mitochondrial-DNA and Y-chromosome lineages are shared or derived from ancient Indian haplogroups, thus revealing a deep shared ancestry between Tharus and Indians. Interestingly, the local Y-chromosome Indian component observed in the Andhra-Pradesh tribals is present in all Tharu groups, whereas the inter-regional component strongly prevails in the two Hindu samples and other Nepalese populations.

The complete sequencing of mtDNAs from unresolved haplogroups also provided informative markers that greatly improved the mtDNA phylogeny and allowed the identification of ancient relationships between Tharus and Malaysia, the Andaman Islands and Japan as well as between India and North and East Africa. Overall, this study gives a paradigmatic example of the importance of genetic isolates in revealing variants not easily detectable in the general population.